Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F14%3A10292898" target="_blank" >RIV/00216208:11130/14:10292898 - isvavai.cz</a>

Výsledek na webu

<a href="http://dx.doi.org/10.1186/1471-2350-15-81" target="_blank" >http://dx.doi.org/10.1186/1471-2350-15-81</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/1471-2350-15-81" target="_blank" >10.1186/1471-2350-15-81</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay

Popis výsledku v původním jazyce

Background: Congenital forms of hearing impairment can be caused by mutations in the estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested the ESRRB locus is linked to high caries experience in humans. Methods: We tested forassociation between the ESRRB locus and dental caries in 1,731 subjects, if ESRRB was expressed in whole saliva, if ESRRB was associated with the microhardness of the dental enamel, and if ESRRB was expressed during enamel development of mice. Results: Two families with recessive ESRRB mutations and DFNB35 hearing impairment showed more extensive dental destruction by caries. Expression levels of ESRRB in whole saliva samples showed differences depending on sex and dental caries experience. Conclusions:The common etiology of dental caries and hearing impairment provides a venue to assist in the identification of individuals at risk to either condition and provides options for the development of new caries prevention strategies, if the

Název v anglickém jazyce

Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay

Popis výsledku anglicky

Background: Congenital forms of hearing impairment can be caused by mutations in the estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested the ESRRB locus is linked to high caries experience in humans. Methods: We tested forassociation between the ESRRB locus and dental caries in 1,731 subjects, if ESRRB was expressed in whole saliva, if ESRRB was associated with the microhardness of the dental enamel, and if ESRRB was expressed during enamel development of mice. Results: Two families with recessive ESRRB mutations and DFNB35 hearing impairment showed more extensive dental destruction by caries. Expression levels of ESRRB in whole saliva samples showed differences depending on sex and dental caries experience. Conclusions:The common etiology of dental caries and hearing impairment provides a venue to assist in the identification of individuals at risk to either condition and provides options for the development of new caries prevention strategies, if the

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FH - Neurologie, neurochirurgie, neurovědy

OECD FORD obor

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Projekt

<a href="/cs/project/NT14348" target="_blank" >NT14348: Využití nových sekvenčních a genotypizačních metod DNA analýzy pro efektivní diagnostiku méně častých a nových typů dědičné neuropatie Charcot-Marie-Tooth.</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

BMC Medical Genetics

ISSN

1471-2350

e-ISSN

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Svazek periodika

15

Číslo periodika v rámci svazku

neuveden

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

10

Strana od-do

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Kód UT WoS článku

000339517900001

EID výsledku v databázi Scopus

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